Canonical Allele Identifier: CA5410896
Gene: OPTN HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.13125989C>G
GRCh37 chr10:g.13167989C>G
Revel Score:
ENST00000263036 0.224
ENST00000378764 0.224
ENST00000378757 0.224
ENST00000378752 0.224
ENST00000378748 0.224
ENST00000378747 (MANE Select) 0.224
gnomAD v2:
10:13167989 C / G
gnomAD v3:
10:13125989 C / G
gnomAD v4:
chr10-13125989-C-G
Joint Max Group AF 0.00001222 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001176 (NFE)
ClinVar RCV:
RCV005221232
ClinVar Variation:
3759145
dbSNP:
267606928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13125989C>G , CM000672.2:g.13125989C>G GRCh38
NC_000010.10:g.13167989C>G , CM000672.1:g.13167989C>G GRCh37
NC_000010.9:g.13207995C>G NCBI36
NG_012876.1:g.30908C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378747.8:c.1192C>G MANE Select ENSP00000368021.3:p.Gln398Glu
ENST00000263036.9:c.1192C>G ENSP00000263036.3:p.Gln398Glu
ENST00000378747.7:c.1192C>G ENSP00000368021.3:p.Gln398Glu
ENST00000378748.7:c.1192C>G ENSP00000368022.3:p.Gln398Glu
ENST00000378752.7:c.1174C>G ENSP00000368027.3:p.Gln392Glu
ENST00000378757.6:c.1192C>G ENSP00000368032.2:p.Gln398Glu
ENST00000378764.6:c.1174C>G ENSP00000368040.1:p.Gln392Glu
NM_001008211.1:c.1192C>G NP_001008212.1:p.Gln398Glu
NM_001008212.1:c.1192C>G NP_001008213.1:p.Gln398Glu
NM_001008213.1:c.1192C>G NP_001008214.1:p.Gln398Glu
NM_021980.4:c.1192C>G NP_068815.2:p.Gln398Glu
XM_005252336.2:c.1174C>G XP_005252393.2:p.Gln392Glu
XM_005252337.3:c.1174C>G XP_005252394.2:p.Gln392Glu
XM_005252338.2:c.1021C>G XP_005252395.2:p.Gln341Glu
NM_001008212.2:c.1192C>G MANE Select NP_001008213.1:p.Gln398Glu
Search 100 bp 5'
Search 100 bp 3'